Genetic Disorders - The Basics
At Genetics.ie, we offer a wide range of genetic testing services from our Blackrock clinic under the supervision of our founder, Dr Willie Reardon. To help you understand our services better, we're here to give you a brief overview of genetic disorders and why they occur.
Essentially, we all inherit our chromosomes from our parents, which typically comprise 23 pairs. Randomly, children get one of each pair of chromosomes from their father and another from their mother. An XX pair means a baby girl with an XY, a boy.
So, What are Genetic Disorders?
Genetic disorders comprise diseases caused by mutations or changes in a person's DNA sequence or in the chromosomal complement of an individual. As such, they can be broken down into three separate categories; 1) single gene, 2) chromosomal disorders, and 3) complex disorders.
Single Gene Disorders happen when a defect occurs in one specific gene. Within this group, there are more than 10,000 disorders, however, many are quite rare, affecting just 1% of the population. Moreover, they can be broken down further into dominant, recessive and X-linked disorders.
Chromosomal Disorders result when the structure or number of chromosomes is altered. This occurs when an individual chromosome's material becomes rearranged or disrupted, with the addition to or loss of chromosomal elements arising with a direct clinical impact on the patient.
Complex Disorders (a.k.a. Polygenic or multifactorial disorders) are those that result from the simultaneous effect of multiple genes, frequently in a complex interaction with lifestyle and environmental factors. Spina Bifida is considered a good example of this type of inheritance.
Genetic testing is an important service that looks for changes in a person's DNA, identifying the presence and risk of the disorders shown above. With the information it provides, families are able to make informed decisions about their health.
Meeting All of Your Genetic Testing Needs
If you're in need of the important life answers that genetic testing offers, our team is able to help you get the information you need. To find out more about the work we do, please visit us today at www.genetics.ie, where you'll find everything you need to know.
Alternatively, to speak to us about your precise needs, call 087 4037149, and we'll be happy to give you the advice you require.